Sudden death during exercise in a juvenile with arrhythmogenic right ventricular cardiomyopathy and desmoglein-2 gene substitution: A case report

Abstract One type of arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disorder resulting in fatty replacement of the right ventricular wall and consequent fatal arrhythmias. It is a major cause of sudden death in young people. Mutations in the genes encoding desmosomal proteins have been identified as a cause of ARVC. We report a case of sudden death during exercise in a juvenile. This case showed fatty replacement of the right ventricular wall, which suggests that ARVC may have been associated with the cause of death. Further genetic analysis showed a novel homozygous R292C substitution of the desmoglein-2 gene ( DSG2 ), which encodes a desmosomal protein. In addition to morphological examination, genetic analysis may be useful for diagnosis of ARVC-suspected autopsy cases.